"Ambry Genetics"[submitter] AND "MUC5B-AS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2216791	NM_002458.3(MUC5B):c.5386G>A (p.Val1796Met)	MUC5B-AS1, MUC5B (V1796M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3296979	NM_002458.3(MUC5B):c.5444G>C (p.Arg1815Thr)	MUC5B, MUC5B-AS1 (R1815T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3296982	NM_002458.3(MUC5B):c.5455G>A (p.Gly1819Ser)	MUC5B, MUC5B-AS1 (G1819S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3149911	NM_002458.3(MUC5B):c.5476A>G (p.Lys1826Glu)	MUC5B, MUC5B-AS1 (K1826E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3149921	NM_002458.3(MUC5B):c.5491C>T (p.Arg1831Trp)	MUC5B, MUC5B-AS1 (R1831W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3296972	NM_002458.3(MUC5B):c.5523C>A (p.Asp1841Glu)	MUC5B, MUC5B-AS1 (D1841E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2242080	NM_002458.3(MUC5B):c.5530G>C (p.Gly1844Arg)	MUC5B-AS1, MUC5B (G1844R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2539653	NM_002458.3(MUC5B):c.5581G>A (p.Asp1861Asn)	MUC5B, MUC5B-AS1 (D1861N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2327035	NM_002458.3(MUC5B):c.5650C>T (p.His1884Tyr)	MUC5B, MUC5B-AS1 (H1884Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3149933	NM_002458.3(MUC5B):c.5654G>A (p.Cys1885Tyr)	MUC5B, MUC5B-AS1 (C1885Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2222222	NM_002458.3(MUC5B):c.5660G>C (p.Ser1887Thr)	MUC5B, MUC5B-AS1 (S1887T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2615962	NM_002458.3(MUC5B):c.5689C>A (p.Pro1897Thr)	MUC5B, MUC5B-AS1 (P1897T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3149944	NM_002458.3(MUC5B):c.5698A>G (p.Thr1900Ala)	MUC5B, MUC5B-AS1 (T1900A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3149949	NM_002458.3(MUC5B):c.5747C>T (p.Thr1916Met)	MUC5B, MUC5B-AS1 (T1916M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2280183	NM_002458.3(MUC5B):c.5765C>T (p.Ser1922Phe)	MUC5B, MUC5B-AS1 (S1922F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221955	NM_002458.3(MUC5B):c.5768C>T (p.Thr1923Met)	MUC5B, MUC5B-AS1 (T1923M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296940	NM_002458.3(MUC5B):c.5777C>T (p.Pro1926Leu)	MUC5B, MUC5B-AS1 (P1926L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319116	NM_002458.3(MUC5B):c.5779A>G (p.Thr1927Ala)	MUC5B, MUC5B-AS1 (T1927A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296967	NM_002458.3(MUC5B):c.5795C>T (p.Thr1932Ile)	MUC5B, MUC5B-AS1 (T1932I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233356	NM_002458.3(MUC5B):c.5813T>A (p.Val1938Glu)	MUC5B, MUC5B-AS1 (V1938E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149976	NM_002458.3(MUC5B):c.5825C>T (p.Thr1942Met)	MUC5B, MUC5B-AS1 (T1942M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471570	NM_002458.3(MUC5B):c.5830A>G (p.Thr1944Ala)	MUC5B, MUC5B-AS1 (T1944A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296925	NM_002458.3(MUC5B):c.5846C>T (p.Thr1949Ile)	MUC5B, MUC5B-AS1 (T1949I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533221	NM_002458.3(MUC5B):c.5850C>G (p.Ser1950Arg)	MUC5B, MUC5B-AS1 (S1950R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494870	NM_002458.3(MUC5B):c.5855A>G (p.Lys1952Arg)	MUC5B, MUC5B-AS1 (K1952R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150003	NM_002458.3(MUC5B):c.5864C>T (p.Pro1955Leu)	MUC5B, MUC5B-AS1 (P1955L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150013	NM_002458.3(MUC5B):c.5921C>T (p.Thr1974Ile)	MUC5B, MUC5B-AS1 (T1974I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296960	NM_002458.3(MUC5B):c.5938G>A (p.Val1980Ile)	MUC5B, MUC5B-AS1 (V1980I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520483	NM_002458.3(MUC5B):c.5938G>T (p.Val1980Phe)	MUC5B, MUC5B-AS1 (V1980F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296936	NM_002458.3(MUC5B):c.6015G>C (p.Met2005Ile)	MUC5B, MUC5B-AS1 (M2005I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271057	NM_002458.3(MUC5B):c.6029C>T (p.Pro2010Leu)	MUC5B, MUC5B-AS1 (P2010L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150035	NM_002458.3(MUC5B):c.6061A>T (p.Thr2021Ser)	MUC5B, MUC5B-AS1 (T2021S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342171	NM_002458.3(MUC5B):c.6100G>A (p.Gly2034Ser)	MUC5B, MUC5B-AS1 (G2034S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267584	NM_002458.3(MUC5B):c.6152T>G (p.Val2051Gly)	MUC5B, MUC5B-AS1 (V2051G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484488	NM_002458.3(MUC5B):c.6176T>A (p.Phe2059Tyr)	MUC5B, MUC5B-AS1 (F2059Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241552	NM_002458.3(MUC5B):c.6177C>A (p.Phe2059Leu)	MUC5B, MUC5B-AS1 (F2059L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212616	NM_002458.3(MUC5B):c.6236C>A (p.Thr2079Lys)	MUC5B, MUC5B-AS1 (T2079K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150059	NM_002458.3(MUC5B):c.6239C>A (p.Thr2080Asn)	MUC5B, MUC5B-AS1 (T2080N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243669	NM_002458.3(MUC5B):c.6266C>T (p.Thr2089Met)	MUC5B, MUC5B-AS1 (T2089M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247470	NM_002458.3(MUC5B):c.6272C>T (p.Thr2091Ile)	MUC5B, MUC5B-AS1 (T2091I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227133	NM_002458.3(MUC5B):c.6343G>A (p.Gly2115Ser)	MUC5B, MUC5B-AS1 (G2115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296988	NM_002458.3(MUC5B):c.6359C>A (p.Pro2120His)	MUC5B, MUC5B-AS1 (P2120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150071	NM_002458.3(MUC5B):c.6367A>G (p.Ser2123Gly)	MUC5B, MUC5B-AS1 (S2123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150073	NM_002458.3(MUC5B):c.6381T>G (p.Ser2127Arg)	MUC5B, MUC5B-AS1 (S2127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296955	NM_002458.3(MUC5B):c.6398T>C (p.Leu2133Pro)	MUC5B, MUC5B-AS1 (L2133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212873	NM_002458.3(MUC5B):c.6407C>T (p.Thr2136Met)	MUC5B, MUC5B-AS1 (T2136M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150080	NM_002458.3(MUC5B):c.6422C>T (p.Thr2141Met)	MUC5B, MUC5B-AS1 (T2141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150084	NM_002458.3(MUC5B):c.6428C>T (p.Thr2143Ile)	MUC5B, MUC5B-AS1 (T2143I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478789	NM_002458.3(MUC5B):c.6437C>T (p.Thr2146Ile)	MUC5B, MUC5B-AS1 (T2146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275239	NM_002458.3(MUC5B):c.6455C>T (p.Thr2152Ile)	MUC5B, MUC5B-AS1 (T2152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495451	NM_002458.3(MUC5B):c.6467C>T (p.Thr2156Ile)	MUC5B, MUC5B-AS1 (T2156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529354	NM_002458.3(MUC5B):c.6512C>A (p.Ala2171Asp)	MUC5B, MUC5B-AS1 (A2171D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472379	NM_002458.3(MUC5B):c.6572C>T (p.Pro2191Leu)	MUC5B, MUC5B-AS1 (P2191L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296924	NM_002458.3(MUC5B):c.6587C>A (p.Thr2196Asn)	MUC5B, MUC5B-AS1 (T2196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296994	NM_002458.3(MUC5B):c.6596G>A (p.Gly2199Glu)	MUC5B, MUC5B-AS1 (G2199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551795	NM_002458.3(MUC5B):c.6647C>T (p.Ser2216Leu)	MUC5B, MUC5B-AS1 (S2216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215872	NM_002458.3(MUC5B):c.6665T>C (p.Leu2222Ser)	MUC5B, MUC5B-AS1 (L2222S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296996	NM_002458.3(MUC5B):c.6683C>T (p.Thr2228Ile)	MUC5B, MUC5B-AS1 (T2228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296954	NM_002458.3(MUC5B):c.6692C>G (p.Ser2231Cys)	MUC5B, MUC5B-AS1 (S2231C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471279	NM_002458.3(MUC5B):c.6727G>A (p.Gly2243Ser)	MUC5B, MUC5B-AS1 (G2243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286944	NM_002458.3(MUC5B):c.6743C>T (p.Ser2248Leu)	MUC5B, MUC5B-AS1 (S2248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296973	NM_002458.3(MUC5B):c.6787G>A (p.Glu2263Lys)	MUC5B, MUC5B-AS1 (E2263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210006	NM_002458.3(MUC5B):c.6790T>C (p.Ser2264Pro)	MUC5B, MUC5B-AS1 (S2264P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203776	NM_002458.3(MUC5B):c.6808A>T (p.Thr2270Ser)	MUC5B-AS1, MUC5B (T2270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588247	NM_002458.3(MUC5B):c.6809C>T (p.Thr2270Met)	MUC5B, MUC5B-AS1 (T2270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602356	NM_002458.3(MUC5B):c.6818C>T (p.Pro2273Leu)	MUC5B, MUC5B-AS1 (P2273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150145	NM_002458.3(MUC5B):c.6830C>T (p.Thr2277Met)	MUC5B, MUC5B-AS1 (T2277M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223164	NM_002458.3(MUC5B):c.6830C>G (p.Thr2277Arg)	MUC5B, MUC5B-AS1 (T2277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223165	NM_002458.3(MUC5B):c.6833C>G (p.Ala2278Gly)	MUC5B, MUC5B-AS1 (A2278G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233081	NM_002458.3(MUC5B):c.6838T>A (p.Ser2280Thr)	MUC5B, MUC5B-AS1 (S2280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320033	NM_002458.3(MUC5B):c.6851C>T (p.Ala2284Val)	MUC5B, MUC5B-AS1 (A2284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603160	NM_002458.3(MUC5B):c.6854C>T (p.Thr2285Met)	MUC5B, MUC5B-AS1 (T2285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235091	NM_002458.3(MUC5B):c.6874C>T (p.Arg2292Cys)	MUC5B, MUC5B-AS1 (R2292C)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 2235022	NM_002458.3(MUC5B):c.6874C>G (p.Arg2292Gly)	MUC5B, MUC5B-AS1 (R2292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294196	NM_002458.3(MUC5B):c.6884C>A (p.Thr2295Asn)	MUC5B, MUC5B-AS1 (T2295N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150173	NM_002458.3(MUC5B):c.6951G>T (p.Gln2317His)	MUC5B, MUC5B-AS1 (Q2317H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150180	NM_002458.3(MUC5B):c.6956C>T (p.Ala2319Val)	MUC5B, MUC5B-AS1 (A2319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261508	NM_002458.3(MUC5B):c.7006G>A (p.Gly2336Arg)	MUC5B, MUC5B-AS1 (G2336R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341194	NM_002458.3(MUC5B):c.7011C>G (p.Asp2337Glu)	MUC5B, MUC5B-AS1 (D2337E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3150193	NM_002458.3(MUC5B):c.7024T>A (p.Ser2342Thr)	MUC5B, MUC5B-AS1 (S2342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606949	NM_002458.3(MUC5B):c.7094A>G (p.Gln2365Arg)	MUC5B, MUC5B-AS1 (Q2365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150205	NM_002458.3(MUC5B):c.7129G>A (p.Val2377Met)	MUC5B, MUC5B-AS1 (V2377M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321095	NM_002458.3(MUC5B):c.7168C>T (p.Arg2390Cys)	MUC5B, MUC5B-AS1 (R2390C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214672	NM_002458.3(MUC5B):c.7178T>C (p.Val2393Ala)	MUC5B, MUC5B-AS1 (V2393A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295695	NM_002458.3(MUC5B):c.7214G>A (p.Arg2405His)	MUC5B, MUC5B-AS1 (R2405H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604426	NM_002458.3(MUC5B):c.7220T>C (p.Phe2407Ser)	MUC5B, MUC5B-AS1 (F2407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225560	NM_002458.3(MUC5B):c.7268C>T (p.Thr2423Met)	MUC5B, MUC5B-AS1 (T2423M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150213	NM_002458.3(MUC5B):c.7289C>T (p.Pro2430Leu)	MUC5B, MUC5B-AS1 (P2430L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296932	NM_002458.3(MUC5B):c.7295C>T (p.Thr2432Met)	MUC5B, MUC5B-AS1 (T2432M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296992	NM_002458.3(MUC5B):c.7324A>G (p.Thr2442Ala)	MUC5B, MUC5B-AS1 (T2442A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296977	NM_002458.3(MUC5B):c.7334C>T (p.Thr2445Met)	MUC5B, MUC5B-AS1 (T2445M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215735	NM_002458.3(MUC5B):c.7381A>G (p.Thr2461Ala)	MUC5B, MUC5B-AS1 (T2461A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342092	NM_002458.3(MUC5B):c.7393C>T (p.Leu2465Phe)	MUC5B, MUC5B-AS1 (L2465F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212983	NM_002458.3(MUC5B):c.7403C>T (p.Pro2468Leu)	MUC5B, MUC5B-AS1 (P2468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381206	NM_002458.3(MUC5B):c.7433C>T (p.Thr2478Ile)	MUC5B, MUC5B-AS1 (T2478I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307294	NM_002458.3(MUC5B):c.7442C>T (p.Thr2481Met)	MUC5B, MUC5B-AS1 (T2481M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150233	NM_002458.3(MUC5B):c.7450G>A (p.Ala2484Thr)	MUC5B, MUC5B-AS1 (A2484T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227740	NM_002458.3(MUC5B):c.7496C>T (p.Thr2499Met)	MUC5B, MUC5B-AS1 (T2499M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242892	NM_002458.3(MUC5B):c.7517C>T (p.Thr2506Ile)	MUC5B, MUC5B-AS1 (T2506I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296949	NM_002458.3(MUC5B):c.7550G>A (p.Gly2517Glu)	MUC5B, MUC5B-AS1 (G2517E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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